Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration

American Journal of Ophthalmology

Volumn 130, Issue 2, 2000, Pages 203-208

  Stefko, Susan T ^a   Zhang, Kang ^a   Gorin, Michael B ^b   Traboulsi, Elias I ^c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 6Q; CLINICAL ARTICLE; DRUSEN; ELECTRORETINOGRAPHY; FEMALE; GENE MAPPING; GENETIC LINKAGE; HUMAN; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA DEGENERATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATROPHY; CASE REPORT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DNA; FEMALE; FUNDUS OCULI; HUMAN; INFANT; LINKAGE (GENETICS); MACULA LUTEA; MACULAR DEGENERATION; MALE; MIDDLE AGE; PEDIGREE; RETINAL DRUSEN; VISUAL ACUITY;

EID: 0033825507     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00562-6     Document Type: Article

References (22)

1. Hutchison J., Tay W. Symmetrical central choroidoretinal disease occurring in senile persons. R London Ophthal Hosp Rep. 8:1875;231-244.
2. Doyne R.W. A peculiar condition of choroiditis occurring in several members of the same family. Trans Ophthal Soc UK. 19:1899;71.
3. Doyne R.W. A note on family choroiditis. Trans Ophthal Soc UK. 30:1910;93-95.
4. Vogt A. Die Ophthalmoskopie im rotfreien Licht. In: Graefe A, Saemisch T, editors. Handbuch der gesammten Augenheilkunde. Untersuchungsmethoden, 3rd ed. Berlin: Leipez, Verlag von Wilhelm Engelman, 1925:1-118.
5. Gregory C.Y., Evans K., Wijesuriya S.D., et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Molec Genet. 5:1996;1055-1059.
6. Heon E., Piguet B., Munier F., et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol. 114:1996;193-198.
7. Edwards A.O., Klein M.L., Berselli C.B., et al. Malattia leventinese refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen . Am J Ophthalmol. 126:1998;417-424.
8. Stone E.M., Lotery A.J., Munier F.L., et al. A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 22:1999;199-202.
9. Small K.W. North Carolina macular dystrophy clinical features, genealogy, and genetic linkage analysis . Trans Am Ophthalmol Soc. 96:1998;925-961.
10. Small K.W., Weber J., Roses A., Perciak-Vance P. North Carolina macular dystrophy (MCDR-1). A review and refined mapping to 6q14-q16.2. Ophthalmic Genet. 14:1993;143-150.
11. Holz F.G., Evans K., Gregoary C.Y., Bhattacharya S., Bird A.C. Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. Arch Ophthalmol. 113:1995;178-184.
12. Rabb M.F., Mullen L., Yelchits S., Udar N., Small K.W. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. Am J Ophthalmol. 125:1998;502-508.
13. Pauleikhoff D., Sauer C.G., Muller C.R., Radermacher M., Merz A., Weber B.H. Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. Am J Ophthalmol. 124:1997;412-415.
14. Small K.W., Puech B., Mullen L., Yelchits S. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. Mol Vis. 3:1997;1.
15. Klein M.L., Schultz D.W., Edwards A., et al. Age-related macular degeneration clinical features in a large family and linkage to chromosome 1q . Arch Ophthalmol. 116:1998;1082-1088.
16. Weber B.H., Vogt G., Pruett R.C., Stohr H., Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet. 8:1994;352-356.
17. Wijesuriya S.D., Evans K., Jay M.R., et al. Sorsby's fundus dystrophy in the British Isles demonstration of a striking founder effect by microsatellite-generated haplotypes . Genome Res. 6:1996;92-101.
18. Stone E.M., Nichols B.E., Kimura A.E., Weingeist T.A., Drack A., Sheffield V.C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol. 112:1994;765-772.
19. Kniazeva M.F., Chiang M.F., Cutting G.R., Zack D.J., Han M., Zhang K. Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet. 20:1999;71-81.
20. Kniazeva M, Traboulsi EI, Stefko ST, et al. A new locus for dominant drusen with macular degeneration maps to chromosome 6q14. Am J Ophthalmol. Forthcoming.
21. Marmor M.F. An updated standard for clinical electroretinography. Arch Ophthalmol. 113:1995;1375-1376.
22. Evans K., Gregory C.Y., Wijesuriya S.D., et al. Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol. 115:1997;904-910.